Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02523:Csl'

296938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Csl

Ensembl Gene

ENSMUSG00000046934

Gene Name

citrate synthase like

Synonyms

1700007H16Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.576) question?

Stock #

IGL02523

Quality Score

Status

Chromosome

Chromosomal Location

99593567-99595346 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99594675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 130 (T130I)

Ref Sequence

ENSEMBL: ENSMUSP00000052373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056085]

AlphaFold

Q80X68

PDB Structure

Substrate induced remodeling of the active site regulates HtrA1 activity [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000056085
AA Change: T130I

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000052373
Gene: ENSMUSG00000046934
AA Change: T130I

Domain	Start	End	E-Value	Type
Pfam:Citrate_synt	71	449	6.2e-119	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222959

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah1	T	C	8: 41,804,984 (GRCm39)	D109G	probably benign	Het
Ces2c	C	A	8: 105,574,746 (GRCm39)	P68T	probably damaging	Het
Cyp2g1	C	T	7: 26,518,612 (GRCm39)	R376W	probably damaging	Het
Ddb1	T	C	19: 10,604,996 (GRCm39)	L1029P	probably damaging	Het
Dennd4c	T	C	4: 86,692,490 (GRCm39)		probably benign	Het
Eya2	C	T	2: 165,596,356 (GRCm39)		probably benign	Het
Fars2	G	T	13: 36,388,676 (GRCm39)	G55V	probably damaging	Het
Fcgbp	C	A	7: 27,804,157 (GRCm39)	A1755E	possibly damaging	Het
Ggt7	T	A	2: 155,356,623 (GRCm39)	E32V	probably damaging	Het
Heg1	C	A	16: 33,558,992 (GRCm39)	T1071K	probably damaging	Het
Hpca	A	G	4: 129,012,368 (GRCm39)	F56S	probably damaging	Het
Hyal4	T	A	6: 24,765,968 (GRCm39)	Y441N	probably damaging	Het
Igsf8	T	A	1: 172,146,980 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,459,109 (GRCm39)	S301P	probably benign	Het
Krt33a	G	A	11: 99,902,518 (GRCm39)	T374I	probably benign	Het
Nav3	T	C	10: 109,605,157 (GRCm39)	D972G	probably damaging	Het
Npc1	T	C	18: 12,334,629 (GRCm39)	T708A	probably benign	Het
Or10ag52	A	T	2: 87,043,664 (GRCm39)	N143Y	probably benign	Het
Or13p10	A	T	4: 118,523,238 (GRCm39)	N175Y	probably benign	Het
Or1l8	T	C	2: 36,817,967 (GRCm39)	D53G	probably damaging	Het
Or6d14	A	T	6: 116,534,054 (GRCm39)	I223L	probably benign	Het
P2rx2	A	G	5: 110,489,908 (GRCm39)	S87P	probably damaging	Het
Pdxdc1	A	T	16: 13,699,799 (GRCm39)	L62H	probably damaging	Het
Plekhj1	A	T	10: 80,633,683 (GRCm39)		probably null	Het
Ptbp2	A	T	3: 119,534,136 (GRCm39)	Y244*	probably null	Het
Ralbp1	T	C	17: 66,166,086 (GRCm39)	E366G	probably damaging	Het
Rergl	T	A	6: 139,473,458 (GRCm39)		probably benign	Het
Slc25a45	T	A	19: 5,934,637 (GRCm39)		probably null	Het
Spop	G	A	11: 95,376,747 (GRCm39)	D267N	possibly damaging	Het
Tars2	T	C	3: 95,648,705 (GRCm39)	D625G	probably damaging	Het
Tlk2	A	G	11: 105,166,773 (GRCm39)	K593R	probably damaging	Het
Tlr3	T	A	8: 45,851,428 (GRCm39)		probably null	Het
Tmem205	C	T	9: 21,832,584 (GRCm39)	R109H	probably benign	Het
Tmem41b	A	G	7: 109,581,935 (GRCm39)	I56T	probably damaging	Het
Ube2q2	T	C	9: 55,099,163 (GRCm39)	V168A	probably damaging	Het
Ufsp2	T	A	8: 46,436,585 (GRCm39)	M112K	probably damaging	Het
Wipi2	T	A	5: 142,646,787 (GRCm39)	V208E	probably damaging	Het
Xkr9	A	G	1: 13,754,474 (GRCm39)	E156G	probably benign	Het

Other mutations in Csl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1519:Csl	UTSW	10	99,593,817 (GRCm39)	missense	probably damaging	1.00
R2284:Csl	UTSW	10	99,594,321 (GRCm39)	missense	possibly damaging	0.84
R2882:Csl	UTSW	10	99,594,787 (GRCm39)	missense	probably damaging	1.00
R4128:Csl	UTSW	10	99,594,462 (GRCm39)	missense	probably benign	0.02
R4424:Csl	UTSW	10	99,594,453 (GRCm39)	missense	possibly damaging	0.82
R4819:Csl	UTSW	10	99,593,944 (GRCm39)	missense	possibly damaging	0.81
R4876:Csl	UTSW	10	99,594,402 (GRCm39)	missense	possibly damaging	0.93
R5700:Csl	UTSW	10	99,594,877 (GRCm39)	missense	probably damaging	0.97
R6463:Csl	UTSW	10	99,594,960 (GRCm39)	missense	probably damaging	0.99
R8064:Csl	UTSW	10	99,594,407 (GRCm39)	missense	probably damaging	1.00
R8161:Csl	UTSW	10	99,594,182 (GRCm39)	missense	probably damaging	1.00
R8296:Csl	UTSW	10	99,594,161 (GRCm39)	missense	probably damaging	1.00
R8317:Csl	UTSW	10	99,594,900 (GRCm39)	missense	probably damaging	1.00
R8696:Csl	UTSW	10	99,594,826 (GRCm39)	missense	probably damaging	1.00
R9134:Csl	UTSW	10	99,594,237 (GRCm39)	missense	probably damaging	1.00
R9395:Csl	UTSW	10	99,595,020 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16